Aliases for MFSD4A Gene

Aliases for MFSD4A Gene

  • Major Facilitator Superfamily Domain Containing 4A 2 3 5
  • Major Facilitator Superfamily Domain-Containing Protein 4A 3 4
  • Major Facilitator Superfamily Domain-Containing Protein 4 3 4
  • Major Facilitator Superfamily Domain Containing 4 2 3
  • MFSD4 3 4
  • UNQ3064 3

External Ids for MFSD4A Gene

Previous HGNC Symbols for MFSD4A Gene

  • MFSD4

Summaries for MFSD4A Gene

GeneCards Summary for MFSD4A Gene

MFSD4A (Major Facilitator Superfamily Domain Containing 4A) is a Protein Coding gene. Diseases associated with MFSD4A include Spherocytosis, Type 5. An important paralog of this gene is MFSD4B.

Additional gene information for MFSD4A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFSD4A Gene

Genomics for MFSD4A Gene

GeneHancer (GH) Regulatory Elements for MFSD4A Gene

Promoters and enhancers for MFSD4A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J205567 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 505.2 -0.5 -487 2.7 CTCF ZNF10 ZIC2 ZNF423 ZBTB26 ZNF341 EZH2 MYC SP2 ZFHX2 MFSD4A MFSD4A-AS1 RF00004-009 RNU2-19P
GH01J205629 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 15.9 +62.8 62780 4.6 RXRA ZBTB40 ZNF217 EP300 CTCF TCF12 MYC NRF1 POLR2G SP1 ELK4 lnc-MFSD4A-9 MFSD4A RAB29 RNU6-418P CDK18 NUCKS1 PM20D1 LOC100420878
GH01J205543 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 25.4 -25.0 -24990 1.6 ZNF217 USF1 ZBTB25 CHD1 GATAD2B CTBP1 MYC CREB1 SP2 CTCF MFSD4A RNU2-19P CDK18 RNU6-418P LOC100420878 ELK4 RF00017-455 RF00004-009 MFSD4A-AS1
GH01J205597 Enhancer 1 Ensembl ENCODE dbSUPER 19.8 +30.5 30516 5.2 JUND FOS CTCF NR2F2 ZNF263 REST BATF MAFK IRF4 EBF1 MFSD4A LOC100420878 ELK4 SLC45A3 NUCKS1 RAB29 RNU6-418P RF00026-101 lnc-SLC45A3-4
GH01J205591 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.5 +24.6 24551 4 ZNF217 EP300 CTCF SIN3A POLR2G SP1 ZIC2 POLR2A AFF1 GABPA RNU6-418P RF00026-101 MFSD4A RAB29 ELK4 MFSD4A-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFSD4A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFSD4A

Genomic Locations for MFSD4A Gene

Genomic Locations for MFSD4A Gene
chr1:205,568,885-205,602,918
(GRCh38/hg38)
Size:
34,034 bases
Orientation:
Plus strand
chr1:205,538,013-205,572,046
(GRCh37/hg19)
Size:
34,034 bases
Orientation:
Plus strand

Genomic View for MFSD4A Gene

Genes around MFSD4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFSD4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFSD4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFSD4A Gene

Proteins for MFSD4A Gene

  • Protein details for MFSD4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N468-MFD4A_HUMAN
    Recommended name:
    Major facilitator superfamily domain-containing protein 4A
    Protein Accession:
    Q8N468
    Secondary Accessions:
    • B7Z8X3
    • Q6UY25
    • Q8NAY0
    • Q8TCP4

    Protein attributes for MFSD4A Gene

    Size:
    514 amino acids
    Molecular mass:
    56265 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88474.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MFSD4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFSD4A Gene

Post-translational modifications for MFSD4A Gene

  • Glycosylation at Asn177
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MFSD4A Gene

Domains & Families for MFSD4A Gene

Gene Families for MFSD4A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for MFSD4A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD4A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52542 (B7Z2V5_HUMAN)
  • cDNA FLJ54046 (B7Z8X3_HUMAN)
  • Major facilitator superfamily domain-containing protein 4 (MFSD4_HUMAN)
  • MFSD4 protein (Q96KX6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N468

UniProtKB/Swiss-Prot:

MFD4A_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with MFSD4A: view

Function for MFSD4A Gene

Phenotypes From GWAS Catalog for MFSD4A Gene

Gene Ontology (GO) - Molecular Function for MFSD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005355 glucose transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with MFSD4A: view
genes like me logo Genes that share phenotypes with MFSD4A: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MFSD4A Gene

Localization for MFSD4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFSD4A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFSD4A gene
Compartment Confidence
plasma membrane 4
mitochondrion 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MFSD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFSD4A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MFSD4A Gene

Pathways & Interactions for MFSD4A Gene

PathCards logo

SuperPathways for MFSD4A Gene

No Data Available

Gene Ontology (GO) - Biological Process for MFSD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA --
GO:1904659 glucose transmembrane transport IEA --
genes like me logo Genes that share ontologies with MFSD4A: view

No data available for Pathways by source and SIGNOR curated interactions for MFSD4A Gene

Drugs & Compounds for MFSD4A Gene

No Compound Related Data Available

Transcripts for MFSD4A Gene

mRNA/cDNA for MFSD4A Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFSD4A Gene

No ASD Table

Relevant External Links for MFSD4A Gene

GeneLoc Exon Structure for
MFSD4A

Expression for MFSD4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFSD4A

Evidence on tissue expression from TISSUES for MFSD4A Gene

  • Nervous system(4.9)
  • Kidney(4.3)
  • Stomach(2.4)
genes like me logo Genes that share expression patterns with MFSD4A: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFSD4A Gene

Orthologs for MFSD4A Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFSD4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFSD4 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MFSD4 31 30
  • 90.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MFSD4 31 30
  • 88.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mfsd4 31 30
  • 87.45 (n)
OneToOne
Mfsd4a 17
rat
(Rattus norvegicus)
Mammalia Mfsd4 30
  • 86.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MFSD4 31
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MFSD4 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFSD4 31 30
  • 76.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFSD4 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd4 30
  • 62.98 (n)
zebrafish
(Danio rerio)
Actinopterygii mfsd4a 31 30
  • 62.82 (n)
OneToMany
mfsd4b 31
  • 49 (a)
OneToMany
zgc66461 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
OneToOne
Species where no ortholog for MFSD4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MFSD4A Gene

ENSEMBL:
Gene Tree for MFSD4A (if available)
TreeFam:
Gene Tree for MFSD4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFSD4A: view image

Paralogs for MFSD4A Gene

Paralogs for MFSD4A Gene

genes like me logo Genes that share paralogs with MFSD4A: view

Variants for MFSD4A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFSD4A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs17857119 - p.Leu228Ile
rs7526132 - p.Gly314Ala

Additional dbSNP identifiers (rs#s) for MFSD4A Gene

Structural Variations from Database of Genomic Variants (DGV) for MFSD4A Gene

Variant ID Type Subtype PubMed ID
nsv549044 CNV loss 21841781

Variation tolerance for MFSD4A Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.60; 89.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFSD4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFSD4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD4A Gene

Disorders for MFSD4A Gene

MalaCards: The human disease database

(1) MalaCards diseases for MFSD4A Gene - From: DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 5
  • sph5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MFSD4A

genes like me logo Genes that share disorders with MFSD4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFSD4A Gene

Publications for MFSD4A Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Structural prediction of two novel human atypical SLC transporters, MFSD4A and MFSD9, and their neuroanatomical distribution in mice. (PMID: 29049335) Perland E … Fredriksson R (PloS one 2017) 3 54

Products for MFSD4A Gene

Sources for MFSD4A Gene